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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 5
2003 1
2004 2
2005 1
2006 5
2007 5
2008 5
2009 3
2010 4
2011 3
2012 3
2013 1
2014 3
2015 1
2016 5
2017 6
2018 2
2019 4
2020 7
2021 7
2022 2
2023 4
2024 1

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72 results

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Page 1
Genotype-phenotype correlations in recessive titinopathies.
Savarese M, Vihola A, Oates EC, Barresi R, Fiorillo C, Tasca G, Jokela M, Sarkozy A, Luo S, Díaz-Manera J, Ehrstedt C, Rojas-García R, Sáenz A, Muelas N, Lonardo F, Fodstad H, Qureshi T, Johari M, Välipakka S, Luque H, Petiot P, de Munain AL, Pane M, Mercuri E, Torella A, Nigro V, Astrea G, Santorelli FM, Bruno C, Kuntzer T, Illa I, Vílchez JJ, Julien C, Ferreiro A, Malandrini A, Zhao CB, Casar-Borota O, Davis M, Muntoni F, Hackman P, Udd B. Savarese M, et al. Among authors: ferreiro a. Genet Med. 2020 Dec;22(12):2029-2040. doi: 10.1038/s41436-020-0914-2. Epub 2020 Aug 11. Genet Med. 2020. PMID: 32778822 Free article.
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG. Oates EC, et al. Among authors: ferreiro a. Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. Ann Neurol. 2018. PMID: 29691892 Free PMC article.
Early-onset myopathies: Entering a new age.
Ferreiro A. Ferreiro A. Semin Cell Dev Biol. 2017 Apr;64:158-159. doi: 10.1016/j.semcdb.2017.03.002. Semin Cell Dev Biol. 2017. PMID: 28364966 No abstract available.
Selenoprotein Gene Nomenclature.
Gladyshev VN, Arnér ES, Berry MJ, Brigelius-Flohé R, Bruford EA, Burk RF, Carlson BA, Castellano S, Chavatte L, Conrad M, Copeland PR, Diamond AM, Driscoll DM, Ferreiro A, Flohé L, Green FR, Guigó R, Handy DE, Hatfield DL, Hesketh J, Hoffmann PR, Holmgren A, Hondal RJ, Howard MT, Huang K, Kim HY, Kim IY, Köhrle J, Krol A, Kryukov GV, Lee BJ, Lee BC, Lei XG, Liu Q, Lescure A, Lobanov AV, Loscalzo J, Maiorino M, Mariotti M, Sandeep Prabhu K, Rayman MP, Rozovsky S, Salinas G, Schmidt EE, Schomburg L, Schweizer U, Simonović M, Sunde RA, Tsuji PA, Tweedie S, Ursini F, Whanger PD, Zhang Y. Gladyshev VN, et al. Among authors: ferreiro a. J Biol Chem. 2016 Nov 11;291(46):24036-24040. doi: 10.1074/jbc.M116.756155. Epub 2016 Sep 19. J Biol Chem. 2016. PMID: 27645994 Free PMC article.
[Titin-related muscle disorders: an expanding spectrum].
Ferreiro A, Andoni Urtizberea J. Ferreiro A, et al. Med Sci (Paris). 2017 Nov;33 Hors série n°1:16-26. doi: 10.1051/medsci/201733s104. Epub 2017 Nov 15. Med Sci (Paris). 2017. PMID: 29139381 Free article. Review. French.
Diagnostic approach to the congenital muscular dystrophies.
Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, Muntoni F, Sewry C, Béroud C, Mathews KD, Moore SA, Bellini J, Rutkowski A, North KN; Members of International Standard of Care Committee for Congenital Muscular Dystrophies. Bönnemann CG, et al. Among authors: ferreiro a. Neuromuscul Disord. 2014 Apr;24(4):289-311. doi: 10.1016/j.nmd.2013.12.011. Epub 2014 Jan 9. Neuromuscul Disord. 2014. PMID: 24581957 Free PMC article.
Desmin Modulates Muscle Cell Adhesion and Migration.
Hakibilen C, Delort F, Daher MT, Joanne P, Cabet E, Cardoso O, Bourgois-Rocha F, Tian C, Rivas E, Madruga M, Ferreiro A, Lilienbaum A, Vicart P, Agbulut O, Hénon S, Batonnet-Pichon S. Hakibilen C, et al. Among authors: ferreiro a. Front Cell Dev Biol. 2022 Mar 8;10:783724. doi: 10.3389/fcell.2022.783724. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 35350386 Free PMC article.
72 results